{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA104522",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 247,
          "referenceAllele": "S",
          "start": 246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006296",
      "geneNCBI_id": 3785,
      "geneSymbol": "KCNQ2",
      "hgvs": [
        "NP_742105.1:p.Ser247Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA130021",
          "hgvs": "NM_172107.3:c.740C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS183166"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=22428[alleleid]",
        "alleleId": 22428,
        "preferredName": "NM_172107.4(KCNQ2):c.740C>G (p.Ser247Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/7389",
        "RCV": [
          "RCV000030664",
          "RCV000678092",
          "RCV001059860",
          "RCV003441710"
        ],
        "variationId": 7389
      }
    ]
  },
  "type": "amino-acid"
}